Aminul Islam, Md Motlabur Rahman, P. K. Datta, Md. Kamrul H. Sajib, Md Rakib Al Imran, Md Manjurul Haque, Md Ahsan Ul Matin Saikot, Md Sanaullah Khan, Md Abu Daud Khan, Kazi Nazmus Sakib, Anik Mitra
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引用次数: 0
摘要
巴尔德-比德尔综合征（Bardet-Biedl Syndrome，BBS）是一种罕见的常染色体隐性多系统受累遗传病，临床表现多种多样。该病的特征是杆状核营养不良、多指畸形、肥胖、学习障碍、男性性腺功能低下或女性生殖器畸形以及肾功能损害。我们报告了一例 12 岁男孩的病例，他主诉视力逐渐下降（夜间尤为明显）、肥胖、性腺发育不全和多指畸形。此外，他还患有四肢轴后多指畸形、肥胖、视网膜色素变性、学习障碍、生殖器发育不全、语言发育迟缓、发育迟缓、散光和黑棘皮症。需要采用多学科方法来管理这种疾病，并需要定期随访。遗传咨询至关重要。J Dhaka Med Coll.2022; 31(2) : 264-267
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive multisystem involvement genetic disorder with a broad spectrum of clinical presentations. It is characterized by rod-cone dystrophy, polydactyly, obesity, learning disabilities, hypogonadism in males or genital abnormalities in females, and renal impairment. We present a case of a 12-year-old boy who complained of gradual loss of vision (particularly noticeable at night), obesity, hypogenitalism, and polydactyly. In addition, he had postaxial polydactyly in all limbs, obesity, retinitis pigmentosa, learning disabilities, hypogenitalism, speech delay, developmental delay, astigmatism, and acanthosis nigricans. Multidisciplinary approaches need to manage this disorder and need regular followup. Genetic counselling is essential.
J Dhaka Med Coll. 2022; 31(2) : 264-267
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